Family | Patient | Age at detection (y) | Age at visit (y) | Hearing loss levela | Tympanogram | Other problems | Hearing intervention (side and age at which CIb or HAc was fitted) | POU3F4 variants (NM_000307) |
---|---|---|---|---|---|---|---|---|
01 | 1–1 | 0.5 | 4.2 | L 85; R 60 dB nHL | A | / | HA (L + R, 1.7y) | c.962T > G (p.Val321Gly) |
02 | 2–1 | 0.4 | 2.4 | L 80; R 70 dB nHL | A | / | CI (L, 4.0y) + HA (R, 0.7y) | c.541C > T (p.Gln181*)e |
03 | 3–1 | 0.4 | 2.3 | L 65; R 65 dB nHL | A |  | CI (R,2.7y) + HA (L,0.5y) | c.699C > A (p.Cys233*) |
04 | 4–1 | 0.5 | 2.1 | L > 97; R 80 dB nHL | C | Mild autism | CI (L,4.5y) + HA (R,2.5y) | g.81548899_82006629delins ACCAATTGGTAGTACAAT |
05 | 5–1 | 0.6 | 3.8 | L 60; R 65 dB nHL | A | / | HA (L + R, 3.8y) | c.644T > G (p.Val215Gly)e |
 | 5–2 | 3.4 | 23.5 | L 65; R 67.5 dB HL | A | / | HA (L + R, 14.0y) | c.644T > G (p.Val215Gly)e |
06 | 6–1 | 0.5 | 0.5 | L > 97; R > 97 dB nHL | A | / | CI (R, 1.0y) | g.81806051_82292259del |
 | 6–2 | 3.6 | 67.2 | L 106; R 107.5 dB HL | A | / | None | g.81806051_82292259del |
07 | 7–1 | 0.5 | 2.0 | L > 97; R > 97 dB nHL |  | / | CI (R, 2.5y) | c.648dupG (p.Leu217ValfsTer9) |
08 | 8–1 | 3.5 | 14.8 | L 115; R 116 dB HL | C | / | CI (R, 15.0y) | c.845G > A (p.Arg282Gln) e |
 | 8–2 | 3.0 | 12.0 | L 107.5; R 105 dB HL | C | Cataract | CI (R, 12.0y) | c.845G > A (p.Arg282Gln)e |
09 | 9–1 | 0.6 | 0.9 | L 70; R > 97 dB nHL | A | Developmental retardation | CI (R, 1.2y) + HA (L, 0.9y) | c.171G > A (p.Trp57*)d |
10 | 10–1 | 0.4 | 2.0 | L > 97; R > 97 dB nHL | A | / | CI (R, 3.0y) | g.81839469_82004841del |
 | 10–2 | 0.4 | 2.0 | L > 97; R > 97 dB nHL | A | / | CI (R, 2.4y) | g.81839469_82004841del |
11 | 11–1 | 0.3 | 0.7 | L 65; R 60 dB nHL | A | / | HA (L + R, 0.7y) | c.946C > T (p.Gln316*)e |
12 | 12–1 | 0.4 | 0.7 | L 50; R 55 dB nHL | B | / | HA (L + R, 1.0y) | c.903_912 delins TGCCA (p.Lys302AlafsTer25)e |
13 | 13–1 | 0.3 | 4.5 | L 75; R 60 dB nHL | B | / | HA (L + R, 4.5y) | c.614_616delGAA (p.Arg205del)d |
14 | 14–1 | 0.5 | 0.6 | L 65; R 60 dB nHL | A | Atrial septal defect | HA (L + R, 0.6y) | g.81807331_81887213deld |